Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa.

doi:10.1080/13816810.2023.2291672

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Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa.

Ophthalmic genetics - 1 Jun 2024

Huang Leslie, Kellom Elizabeth, Stepien Kimberly

Abstract excerpt

BACKGROUND: Pathogenic variants in IFT140 have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of IFT140-related RP have been associated with short-rib thoracic dysplasia. IFT140 variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in IFT140 have not been reported in patients with concurrent RP (including...

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